Cardiomyopathies - including childhood onsetGene: PRKAG2
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Cardiomyopathy, hypertrophic 6 OMIM#600858; Glycogen storage disease of heart, lethal congenital OMIM#261740; Wolff-Parkinson-White syndrome OMIM#194200
Created: 25 Mar 2019, 4:30 p.m.
Well characterised gene. Alfares et al (2015) Genet Med 17(11):880. Walsh et al (2017) Genet Med 19:192. OMIM: all adult onset.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to PRKAG2.
gene: PRKAG2 was added gene: PRKAG2 was added to Cardiomyopathies - including childhood onset. Sources: London South GLHSouth West GLH,Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 194200 Phenotypes for gene: PRKAG2 were set to Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; Cardiomyopathy, familial hypertrophic 6,; syndromic HCM